ClinVar Miner

List of variants reported as likely benign for Brachyolmia-amelogenesis imperfecta syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 451
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3599G>A (p.Ser1200Asn) rs150273175 0.00162
NM_001130144.3(LTBP3):c.1314G>A (p.Ala438=) rs140740739 0.00094
NM_001130144.3(LTBP3):c.2477-11A>T rs201506760 0.00069
NM_001130144.3(LTBP3):c.2817G>A (p.Gln939=) rs150810114 0.00057
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu) rs28403592 0.00056
NM_001130144.3(LTBP3):c.1345+7C>T rs72939112 0.00045
NM_001130144.3(LTBP3):c.3286C>G (p.Arg1096Gly) rs527555537 0.00041
NM_001130144.3(LTBP3):c.2637C>A (p.Pro879=) rs139187275 0.00033
NM_001130144.3(LTBP3):c.332-18C>T rs367889996 0.00022
NM_001130144.3(LTBP3):c.3858C>T (p.Ala1286=) rs555971472 0.00022
NM_001130144.3(LTBP3):c.1549-16C>A rs369277746 0.00019
NM_001130144.3(LTBP3):c.1721-4G>A rs200801315 0.00018
NM_001130144.3(LTBP3):c.1551G>A (p.Pro517=) rs369318543 0.00016
NM_001130144.3(LTBP3):c.3210C>T (p.Pro1070=) rs377594002 0.00015
NM_001130144.3(LTBP3):c.1971G>C (p.Ser657=) rs372794947 0.00014
NM_001130144.3(LTBP3):c.3408C>T (p.Asp1136=) rs779288121 0.00014
NM_001130144.3(LTBP3):c.3708G>C (p.Val1236=) rs368633346 0.00014
NM_001130144.3(LTBP3):c.1101T>C (p.His367=) rs138668677 0.00011
NM_001130144.3(LTBP3):c.1622-4G>A rs936526420 0.00011
NM_001130144.3(LTBP3):c.1065C>T (p.Asp355=) rs373077694 0.00009
NM_001130144.3(LTBP3):c.1455C>T (p.Asp485=) rs200551731 0.00009
NM_001130144.3(LTBP3):c.1549-4G>A rs770241725 0.00009
NM_001130144.3(LTBP3):c.279C>A (p.Ile93=) rs764035518 0.00009
NM_001130144.3(LTBP3):c.3342C>T (p.Pro1114=) rs1002150082 0.00009
NM_001130144.3(LTBP3):c.3386-4G>A rs758834505 0.00009
NM_001130144.3(LTBP3):c.1905C>T (p.Thr635=) rs750311222 0.00008
NM_001130144.3(LTBP3):c.3705C>T (p.Ala1235=) rs893121770 0.00008
NM_001130144.3(LTBP3):c.3468C>T (p.Ala1156=) rs1313996915 0.00007
NM_001130144.3(LTBP3):c.1197G>A (p.Pro399=) rs371960878 0.00006
NM_001130144.3(LTBP3):c.318C>T (p.Ser106=) rs532614152 0.00006
NM_001130144.3(LTBP3):c.3245-4G>A rs753454432 0.00006
NM_001130144.3(LTBP3):c.3450C>T (p.Gly1150=) rs988974106 0.00006
NM_001130144.3(LTBP3):c.3774C>T (p.Cys1258=) rs1335085112 0.00006
NM_001130144.3(LTBP3):c.1734C>T (p.Cys578=) rs750943686 0.00005
NM_001130144.3(LTBP3):c.2238C>T (p.Asn746=) rs897072047 0.00005
NM_001130144.3(LTBP3):c.3009G>A (p.Glu1003=) rs142872641 0.00005
NM_001130144.3(LTBP3):c.3741C>T (p.Ala1247=) rs765433192 0.00005
NM_001130144.3(LTBP3):c.3761-19C>T rs780086002 0.00005
NM_001130144.3(LTBP3):c.3792C>T (p.Arg1264=) rs575913813 0.00005
NM_001130144.3(LTBP3):c.1350G>A (p.Ala450=) rs772062656 0.00004
NM_001130144.3(LTBP3):c.1549-11G>A rs375244333 0.00004
NM_001130144.3(LTBP3):c.1622-8G>A rs778346539 0.00004
NM_001130144.3(LTBP3):c.1979-9C>T rs749666154 0.00004
NM_001130144.3(LTBP3):c.2223C>G (p.Ala741=) rs760181021 0.00004
NM_001130144.3(LTBP3):c.2379C>T (p.Asp793=) rs919732061 0.00004
NM_001130144.3(LTBP3):c.2725+7G>A rs753230377 0.00004
NM_001130144.3(LTBP3):c.3628+12C>T rs376361720 0.00004
NM_001130144.3(LTBP3):c.3696G>A (p.Pro1232=) rs1021285127 0.00004
NM_001130144.3(LTBP3):c.3761-14G>A rs959073244 0.00004
NM_001130144.3(LTBP3):c.3768C>T (p.Asp1256=) rs780866493 0.00004
NM_001130144.3(LTBP3):c.456C>T (p.Gly152=) rs758898554 0.00004
NM_001130144.3(LTBP3):c.465C>A (p.Gly155=) rs765459938 0.00004
NM_001130144.3(LTBP3):c.531C>T (p.Asp177=) rs777775387 0.00004
NM_001130144.3(LTBP3):c.1014C>T (p.Gly338=) rs781078327 0.00003
NM_001130144.3(LTBP3):c.1032C>G (p.Gly344=) rs374183185 0.00003
NM_001130144.3(LTBP3):c.1622-10C>A rs771664405 0.00003
NM_001130144.3(LTBP3):c.2231-13C>G rs867967679 0.00003
NM_001130144.3(LTBP3):c.2754G>A (p.Glu918=) rs762809010 0.00003
NM_001130144.3(LTBP3):c.2895C>T (p.Ala965=) rs199948422 0.00003
NM_001130144.3(LTBP3):c.3081C>T (p.Tyr1027=) rs745765954 0.00003
NM_001130144.3(LTBP3):c.3096G>A (p.Leu1032=) rs756994995 0.00003
NM_001130144.3(LTBP3):c.3372C>T (p.Pro1124=) rs891777322 0.00003
NM_001130144.3(LTBP3):c.3629-12C>T rs1163480766 0.00003
NM_001130144.3(LTBP3):c.3760+12T>C rs1040585946 0.00003
NM_001130144.3(LTBP3):c.1311C>T (p.Gly437=) rs770869213 0.00002
NM_001130144.3(LTBP3):c.1548+9G>A rs200530421 0.00002
NM_001130144.3(LTBP3):c.1629C>T (p.Ile543=) rs201114416 0.00002
NM_001130144.3(LTBP3):c.2230+15C>T rs376917383 0.00002
NM_001130144.3(LTBP3):c.2597-19C>T rs188914608 0.00002
NM_001130144.3(LTBP3):c.3106+10G>A rs1183489279 0.00002
NM_001130144.3(LTBP3):c.3168C>T (p.Gly1056=) rs773332580 0.00002
NM_001130144.3(LTBP3):c.399G>A (p.Pro133=) rs775761148 0.00002
NM_001130144.3(LTBP3):c.561C>T (p.Ala187=) rs772833011 0.00002
NM_001130144.3(LTBP3):c.865-4C>T rs775781752 0.00002
NM_001130144.3(LTBP3):c.971-8C>T rs773630683 0.00002
NM_001130144.3(LTBP3):c.1063+13A>G rs761226122 0.00001
NM_001130144.3(LTBP3):c.1549-5C>T rs373224083 0.00001
NM_001130144.3(LTBP3):c.1617C>T (p.Tyr539=) rs751782127 0.00001
NM_001130144.3(LTBP3):c.1979-12C>G rs200555150 0.00001
NM_001130144.3(LTBP3):c.2353+17C>T rs767553195 0.00001
NM_001130144.3(LTBP3):c.2448T>C (p.His816=) rs745973200 0.00001
NM_001130144.3(LTBP3):c.2514G>T (p.Gly838=) rs373120822 0.00001
NM_001130144.3(LTBP3):c.2596+14G>A rs745530069 0.00001
NM_001130144.3(LTBP3):c.2893+15del rs746343395 0.00001
NM_001130144.3(LTBP3):c.2913C>T (p.Cys971=) rs559704168 0.00001
NM_001130144.3(LTBP3):c.2978-11T>G rs1267074429 0.00001
NM_001130144.3(LTBP3):c.3106+9C>T rs777722947 0.00001
NM_001130144.3(LTBP3):c.3107-17G>A rs756145309 0.00001
NM_001130144.3(LTBP3):c.312G>T (p.Thr104=) rs760759276 0.00001
NM_001130144.3(LTBP3):c.3165C>G (p.Arg1055=) rs1202004426 0.00001
NM_001130144.3(LTBP3):c.332-16C>T rs200862083 0.00001
NM_001130144.3(LTBP3):c.332-17C>T rs894687460 0.00001
NM_001130144.3(LTBP3):c.3386-18G>A rs1371017072 0.00001
NM_001130144.3(LTBP3):c.3386-6C>T rs1369304738 0.00001
NM_001130144.3(LTBP3):c.3405C>T (p.Arg1135=) rs1324573571 0.00001
NM_001130144.3(LTBP3):c.3444C>T (p.Cys1148=) rs1442168258 0.00001
NM_001130144.3(LTBP3):c.3477C>T (p.Phe1159=) rs956271105 0.00001
NM_001130144.3(LTBP3):c.3504C>T (p.Arg1168=) rs748664824 0.00001
NM_001130144.3(LTBP3):c.3514G>A (p.Ala1172Thr) rs769061467 0.00001
NM_001130144.3(LTBP3):c.3537G>A (p.Pro1179=) rs1855981902 0.00001
NM_001130144.3(LTBP3):c.3588C>T (p.Phe1196=) rs922074921 0.00001
NM_001130144.3(LTBP3):c.3603C>T (p.Pro1201=) rs956177794 0.00001
NM_001130144.3(LTBP3):c.3610T>C (p.Leu1204=) rs746305466 0.00001
NM_001130144.3(LTBP3):c.3723C>T (p.Gly1241=) rs1442567859 0.00001
NM_001130144.3(LTBP3):c.3760+16G>A rs771689053 0.00001
NM_001130144.3(LTBP3):c.3834C>T (p.Gly1278=) rs1303084094 0.00001
NM_001130144.3(LTBP3):c.642G>A (p.Pro214=) rs758365981 0.00001
NM_001130144.3(LTBP3):c.662-15C>T rs1176765358 0.00001
NM_001130144.3(LTBP3):c.792G>A (p.Lys264=) rs759226650 0.00001
NM_001130144.3(LTBP3):c.1086G>A (p.Pro362=)
NM_001130144.3(LTBP3):c.1089C>T (p.Gly363=)
NM_001130144.3(LTBP3):c.1167C>T (p.Pro389=)
NM_001130144.3(LTBP3):c.1170C>T (p.Ser390=)
NM_001130144.3(LTBP3):c.1186+16C>T
NM_001130144.3(LTBP3):c.1187-14A>T
NM_001130144.3(LTBP3):c.1187-15_1187-6del
NM_001130144.3(LTBP3):c.1187-16C>T rs764686952
NM_001130144.3(LTBP3):c.1187-20C>T
NM_001130144.3(LTBP3):c.1187-5T>C
NM_001130144.3(LTBP3):c.1187-9C>T
NM_001130144.3(LTBP3):c.1197G>C (p.Pro399=)
NM_001130144.3(LTBP3):c.1209C>T (p.Ser403=)
NM_001130144.3(LTBP3):c.1215T>C (p.Cys405=)
NM_001130144.3(LTBP3):c.1222C>T (p.Leu408=) rs2135154353
NM_001130144.3(LTBP3):c.1239C>T (p.His413=)
NM_001130144.3(LTBP3):c.126G>A (p.Glu42=)
NM_001130144.3(LTBP3):c.1272C>A (p.Thr424=)
NM_001130144.3(LTBP3):c.1296C>T (p.Val432=) rs1456966297
NM_001130144.3(LTBP3):c.12C>T (p.Pro4=)
NM_001130144.3(LTBP3):c.1313_1314delinsTA (p.Ala438Val)
NM_001130144.3(LTBP3):c.1317G>A (p.Arg439=)
NM_001130144.3(LTBP3):c.132G>T (p.Gly44=)
NM_001130144.3(LTBP3):c.1345+11G>A
NM_001130144.3(LTBP3):c.1345+17C>A
NM_001130144.3(LTBP3):c.1345+17C>G
NM_001130144.3(LTBP3):c.1345+17C>T
NM_001130144.3(LTBP3):c.1345+18G>A
NM_001130144.3(LTBP3):c.1345+7C>A
NM_001130144.3(LTBP3):c.1346-18C>G rs1565099357
NM_001130144.3(LTBP3):c.1346-20G>T
NM_001130144.3(LTBP3):c.1374G>A (p.Gly458=)
NM_001130144.3(LTBP3):c.1383C>T (p.Tyr461=)
NM_001130144.3(LTBP3):c.138C>T (p.Ala46=)
NM_001130144.3(LTBP3):c.1437C>G (p.Ser479=)
NM_001130144.3(LTBP3):c.1482G>A (p.Pro494=)
NM_001130144.3(LTBP3):c.1506A>G (p.Pro502=)
NM_001130144.3(LTBP3):c.1531+12C>A
NM_001130144.3(LTBP3):c.1532-11_1532-9del
NM_001130144.3(LTBP3):c.1532-9C>A
NM_001130144.3(LTBP3):c.1539C>G (p.Thr513=) rs769273204
NM_001130144.3(LTBP3):c.153A>G (p.Ala51=)
NM_001130144.3(LTBP3):c.1542G>A (p.Thr514=)
NM_001130144.3(LTBP3):c.1549-16C>T
NM_001130144.3(LTBP3):c.1549-7C>T
NM_001130144.3(LTBP3):c.1551G>T (p.Pro517=)
NM_001130144.3(LTBP3):c.1560G>A (p.Glu520=)
NM_001130144.3(LTBP3):c.1599G>A (p.Thr533=)
NM_001130144.3(LTBP3):c.15A>G (p.Arg5=)
NM_001130144.3(LTBP3):c.1621+9G>A
NM_001130144.3(LTBP3):c.1622-12T>G
NM_001130144.3(LTBP3):c.1622-5del rs771025582
NM_001130144.3(LTBP3):c.1647G>A (p.Pro549=)
NM_001130144.3(LTBP3):c.1656C>G (p.Arg552=)
NM_001130144.3(LTBP3):c.1668G>A (p.Pro556=)
NM_001130144.3(LTBP3):c.1671C>T (p.Asp557=)
NM_001130144.3(LTBP3):c.1683C>T (p.Ser561=)
NM_001130144.3(LTBP3):c.1720+13C>T
NM_001130144.3(LTBP3):c.1720+20G>C rs1482657367
NM_001130144.3(LTBP3):c.1720+8C>T rs1565098331
NM_001130144.3(LTBP3):c.1720+9C>T
NM_001130144.3(LTBP3):c.1721-13G>A
NM_001130144.3(LTBP3):c.1721-15T>G
NM_001130144.3(LTBP3):c.1721-5C>T rs777185028
NM_001130144.3(LTBP3):c.1721-9T>C rs1418519380
NM_001130144.3(LTBP3):c.1752C>T (p.Ile584=)
NM_001130144.3(LTBP3):c.1770C>T (p.Cys590=)
NM_001130144.3(LTBP3):c.1782C>T (p.Pro594=)
NM_001130144.3(LTBP3):c.1785T>C (p.Pro595=)
NM_001130144.3(LTBP3):c.1809C>T (p.Pro603=)
NM_001130144.3(LTBP3):c.1827C>T (p.Pro609=)
NM_001130144.3(LTBP3):c.1846+18G>C
NM_001130144.3(LTBP3):c.1846+20C>A
NM_001130144.3(LTBP3):c.1846+7G>A
NM_001130144.3(LTBP3):c.1847-12C>T
NM_001130144.3(LTBP3):c.1847-14C>T
NM_001130144.3(LTBP3):c.1848T>C (p.Asp616=)
NM_001130144.3(LTBP3):c.1854C>T (p.Asn618=) rs368240238
NM_001130144.3(LTBP3):c.1872C>G (p.Pro624=)
NM_001130144.3(LTBP3):c.1881G>A (p.Pro627=)
NM_001130144.3(LTBP3):c.1908C>T (p.Gly636=) rs767494218
NM_001130144.3(LTBP3):c.1941C>T (p.Tyr647=)
NM_001130144.3(LTBP3):c.1962G>C (p.Gly654=)
NM_001130144.3(LTBP3):c.1978+10G>A
NM_001130144.3(LTBP3):c.1978+11C>T
NM_001130144.3(LTBP3):c.1978+9C>T
NM_001130144.3(LTBP3):c.1979-14T>C
NM_001130144.3(LTBP3):c.1979-15C>T
NM_001130144.3(LTBP3):c.1979-17C>G
NM_001130144.3(LTBP3):c.1979-7C>T rs948810399
NM_001130144.3(LTBP3):c.198T>C (p.Phe66=) rs1251001072
NM_001130144.3(LTBP3):c.2001C>G (p.Pro667=)
NM_001130144.3(LTBP3):c.2005C>T (p.Leu669=)
NM_001130144.3(LTBP3):c.2022C>T (p.Gly674=)
NM_001130144.3(LTBP3):c.2040C>T (p.Pro680=)
NM_001130144.3(LTBP3):c.2067C>T (p.Pro689=)
NM_001130144.3(LTBP3):c.2079C>T (p.Leu693=)
NM_001130144.3(LTBP3):c.2100G>A (p.Val700=)
NM_001130144.3(LTBP3):c.2103C>T (p.Cys701=)
NM_001130144.3(LTBP3):c.2108-10T>G rs2135140225
NM_001130144.3(LTBP3):c.2108-19C>T
NM_001130144.3(LTBP3):c.2108-6G>A
NM_001130144.3(LTBP3):c.2108-8C>T
NM_001130144.3(LTBP3):c.2121C>T (p.Cys707=)
NM_001130144.3(LTBP3):c.2124G>T (p.Arg708=)
NM_001130144.3(LTBP3):c.2133C>T (p.Ser711=)
NM_001130144.3(LTBP3):c.2142G>T (p.Pro714=)
NM_001130144.3(LTBP3):c.216G>A (p.Lys72=)
NM_001130144.3(LTBP3):c.2178G>A (p.Lys726=)
NM_001130144.3(LTBP3):c.2208C>T (p.Ser736=)
NM_001130144.3(LTBP3):c.2212G>A (p.Gly738Arg) rs377496105
NM_001130144.3(LTBP3):c.2230+18A>G
NM_001130144.3(LTBP3):c.2231-18T>G
NM_001130144.3(LTBP3):c.2231-6C>T
NM_001130144.3(LTBP3):c.2231-8C>T
NM_001130144.3(LTBP3):c.2259C>T (p.Pro753=)
NM_001130144.3(LTBP3):c.2307C>T (p.Thr769=)
NM_001130144.3(LTBP3):c.2322C>T (p.Tyr774=)
NM_001130144.3(LTBP3):c.2325G>T (p.Ala775=)
NM_001130144.3(LTBP3):c.2331G>A (p.Ala777=)
NM_001130144.3(LTBP3):c.2337C>T (p.Asp779=)
NM_001130144.3(LTBP3):c.2353+13del rs1856370966
NM_001130144.3(LTBP3):c.2353+15C>T rs1379347824
NM_001130144.3(LTBP3):c.2353+17C>G
NM_001130144.3(LTBP3):c.2354-11A>G
NM_001130144.3(LTBP3):c.2354-14C>T
NM_001130144.3(LTBP3):c.2354-17C>T
NM_001130144.3(LTBP3):c.2354-9G>A rs2135131682
NM_001130144.3(LTBP3):c.2361C>T (p.Asp787=)
NM_001130144.3(LTBP3):c.2382G>A (p.Val794=)
NM_001130144.3(LTBP3):c.2409G>A (p.Thr803=)
NM_001130144.3(LTBP3):c.2451G>A (p.Leu817=)
NM_001130144.3(LTBP3):c.2454C>T (p.Ser818=)
NM_001130144.3(LTBP3):c.2476+18T>C
NM_001130144.3(LTBP3):c.2477-11A>G
NM_001130144.3(LTBP3):c.2477-17C>T
NM_001130144.3(LTBP3):c.2477-4A>G
NM_001130144.3(LTBP3):c.2477-9C>T
NM_001130144.3(LTBP3):c.2496C>T (p.Phe832=)
NM_001130144.3(LTBP3):c.2508C>T (p.Cys836=)
NM_001130144.3(LTBP3):c.2597-17C>T
NM_001130144.3(LTBP3):c.2597-18G>A
NM_001130144.3(LTBP3):c.2597-4G>A
NM_001130144.3(LTBP3):c.2597-4G>T
NM_001130144.3(LTBP3):c.2597-5C>G
NM_001130144.3(LTBP3):c.2597-5C>T rs201473453
NM_001130144.3(LTBP3):c.2597-7C>T
NM_001130144.3(LTBP3):c.2622G>A (p.Pro874=)
NM_001130144.3(LTBP3):c.2631C>T (p.Cys877=) rs964875283
NM_001130144.3(LTBP3):c.2649C>T (p.Cys883=) rs768607021
NM_001130144.3(LTBP3):c.2706G>A (p.Gln902=)
NM_001130144.3(LTBP3):c.2725+16G>A
NM_001130144.3(LTBP3):c.2725+19C>A
NM_001130144.3(LTBP3):c.2725+8T>C
NM_001130144.3(LTBP3):c.2726-14C>T
NM_001130144.3(LTBP3):c.273G>T (p.Thr91=) rs1308168899
NM_001130144.3(LTBP3):c.2748G>A (p.Lys916=)
NM_001130144.3(LTBP3):c.2772T>C (p.Asp924=) rs2135125557
NM_001130144.3(LTBP3):c.2778A>G (p.Thr926=) rs1266689051
NM_001130144.3(LTBP3):c.2844C>T (p.Ala948=)
NM_001130144.3(LTBP3):c.2847C>T (p.Gly949=)
NM_001130144.3(LTBP3):c.2862C>T (p.Cys954=)
NM_001130144.3(LTBP3):c.2893+10C>A rs765058847
NM_001130144.3(LTBP3):c.2893+11G>A
NM_001130144.3(LTBP3):c.2893+14C>G
NM_001130144.3(LTBP3):c.2894-12C>G
NM_001130144.3(LTBP3):c.2894-6C>T
NM_001130144.3(LTBP3):c.2894-7C>T
NM_001130144.3(LTBP3):c.2894-8C>T
NM_001130144.3(LTBP3):c.2946C>T (p.Asn982=)
NM_001130144.3(LTBP3):c.2949C>T (p.Ile983=)
NM_001130144.3(LTBP3):c.2958C>T (p.Tyr986=)
NM_001130144.3(LTBP3):c.2977+10C>T
NM_001130144.3(LTBP3):c.2977+18C>T rs909176963
NM_001130144.3(LTBP3):c.2977+20G>A
NM_001130144.3(LTBP3):c.2977+20G>C
NM_001130144.3(LTBP3):c.2977+20G>T
NM_001130144.3(LTBP3):c.2977+7G>A
NM_001130144.3(LTBP3):c.2977+9C>T
NM_001130144.3(LTBP3):c.2978-17T>G
NM_001130144.3(LTBP3):c.2978-18G>T
NM_001130144.3(LTBP3):c.2991C>T (p.Cys997=)
NM_001130144.3(LTBP3):c.3003G>A (p.Gly1001=)
NM_001130144.3(LTBP3):c.3027G>A (p.Lys1009=)
NM_001130144.3(LTBP3):c.3030C>T (p.Cys1010=)
NM_001130144.3(LTBP3):c.3033G>A (p.Val1011=)
NM_001130144.3(LTBP3):c.3039G>A (p.Thr1013=)
NM_001130144.3(LTBP3):c.3039G>T (p.Thr1013=)
NM_001130144.3(LTBP3):c.306G>A (p.Thr102=)
NM_001130144.3(LTBP3):c.3084C>T (p.Asp1028=)
NM_001130144.3(LTBP3):c.3087G>A (p.Gly1029=)
NM_001130144.3(LTBP3):c.3106+12C>T
NM_001130144.3(LTBP3):c.3106+14C>G
NM_001130144.3(LTBP3):c.3106+16C>G rs2135122086
NM_001130144.3(LTBP3):c.3106+17G>A
NM_001130144.3(LTBP3):c.3107-10C>T
NM_001130144.3(LTBP3):c.3107-13T>G rs2135121557
NM_001130144.3(LTBP3):c.3107-15T>C
NM_001130144.3(LTBP3):c.3107-23_3107-15dup rs770122549
NM_001130144.3(LTBP3):c.3107-24_3107-3dup
NM_001130144.3(LTBP3):c.3107-6C>T
NM_001130144.3(LTBP3):c.3129G>A (p.Glu1043=)
NM_001130144.3(LTBP3):c.312G>A (p.Thr104=)
NM_001130144.3(LTBP3):c.3132C>T (p.Ser1044=)
NM_001130144.3(LTBP3):c.3141G>C (p.Arg1047=) rs1173783574
NM_001130144.3(LTBP3):c.3159C>T (p.Asn1053=)
NM_001130144.3(LTBP3):c.3162G>C (p.Thr1054=)
NM_001130144.3(LTBP3):c.3183C>T (p.Ala1061=)
NM_001130144.3(LTBP3):c.3189G>A (p.Thr1063=)
NM_001130144.3(LTBP3):c.3198C>T (p.Ala1066=)
NM_001130144.3(LTBP3):c.3228G>C (p.Leu1076=)
NM_001130144.3(LTBP3):c.3234G>A (p.Pro1078=)
NM_001130144.3(LTBP3):c.3240G>A (p.Glu1080=)
NM_001130144.3(LTBP3):c.3244+13C>T
NM_001130144.3(LTBP3):c.3244+14dup
NM_001130144.3(LTBP3):c.3244+15G>C
NM_001130144.3(LTBP3):c.3244+18G>A
NM_001130144.3(LTBP3):c.3244+9C>G
NM_001130144.3(LTBP3):c.3245-11G>A
NM_001130144.3(LTBP3):c.3245-14C>T
NM_001130144.3(LTBP3):c.3245-15C>T
NM_001130144.3(LTBP3):c.3245-16C>T
NM_001130144.3(LTBP3):c.3245-17_3245-14dup
NM_001130144.3(LTBP3):c.3245-19_3245-10dup
NM_001130144.3(LTBP3):c.3245-20C>A rs1490201410
NM_001130144.3(LTBP3):c.3245-20C>T
NM_001130144.3(LTBP3):c.3252C>T (p.Asp1084=) rs765891223
NM_001130144.3(LTBP3):c.3262G>A (p.Asp1088Asn)
NM_001130144.3(LTBP3):c.3303G>A (p.Pro1101=)
NM_001130144.3(LTBP3):c.3303G>T (p.Pro1101=) rs545225621
NM_001130144.3(LTBP3):c.331+12G>T rs2135167983
NM_001130144.3(LTBP3):c.331+13G>A
NM_001130144.3(LTBP3):c.331+19G>C
NM_001130144.3(LTBP3):c.3312C>T (p.Tyr1104=)
NM_001130144.3(LTBP3):c.332-16C>A
NM_001130144.3(LTBP3):c.332-6C>T
NM_001130144.3(LTBP3):c.3330G>A (p.Pro1110=)
NM_001130144.3(LTBP3):c.3348C>T (p.Pro1116=)
NM_001130144.3(LTBP3):c.3372C>A (p.Pro1124=) rs891777322
NM_001130144.3(LTBP3):c.3378C>T (p.Ser1126=) rs2135119684
NM_001130144.3(LTBP3):c.3381G>A (p.Pro1127=)
NM_001130144.3(LTBP3):c.3385+11G>A rs2135119574
NM_001130144.3(LTBP3):c.3385+20T>A
NM_001130144.3(LTBP3):c.3385+9G>A
NM_001130144.3(LTBP3):c.3386-12T>C
NM_001130144.3(LTBP3):c.3386-15A>G
NM_001130144.3(LTBP3):c.3386-16C>T
NM_001130144.3(LTBP3):c.3386-4G>T
NM_001130144.3(LTBP3):c.3386-5C>T
NM_001130144.3(LTBP3):c.3399G>A (p.Glu1133=)
NM_001130144.3(LTBP3):c.33G>C (p.Leu11=)
NM_001130144.3(LTBP3):c.3414C>T (p.Cys1138=)
NM_001130144.3(LTBP3):c.3459C>T (p.Ala1153=)
NM_001130144.3(LTBP3):c.3480C>T (p.Asp1160=) rs776895791
NM_001130144.3(LTBP3):c.3492C>T (p.Cys1164=)
NM_001130144.3(LTBP3):c.3501C>T (p.Gly1167=)
NM_001130144.3(LTBP3):c.3507C>T (p.Gly1169=)
NM_001130144.3(LTBP3):c.3513C>T (p.Gly1171=) rs2135118206
NM_001130144.3(LTBP3):c.3547+7C>T rs1424015880
NM_001130144.3(LTBP3):c.3548-18C>T
NM_001130144.3(LTBP3):c.3561G>A (p.Pro1187=)
NM_001130144.3(LTBP3):c.3561G>C (p.Pro1187=)
NM_001130144.3(LTBP3):c.3585C>A (p.Ser1195=)
NM_001130144.3(LTBP3):c.3585C>T (p.Ser1195=)
NM_001130144.3(LTBP3):c.360C>T (p.Gly120=)
NM_001130144.3(LTBP3):c.3628+10dup
NM_001130144.3(LTBP3):c.3628+17C>A
NM_001130144.3(LTBP3):c.3628+17C>T
NM_001130144.3(LTBP3):c.3628+18G>C
NM_001130144.3(LTBP3):c.3629-13C>T
NM_001130144.3(LTBP3):c.3629-7C>A
NM_001130144.3(LTBP3):c.3636C>T (p.Asp1212=)
NM_001130144.3(LTBP3):c.3645G>A (p.Glu1215=)
NM_001130144.3(LTBP3):c.3657C>T (p.Asp1219=)
NM_001130144.3(LTBP3):c.3684C>T (p.Cys1228=)
NM_001130144.3(LTBP3):c.3687G>A (p.Val1229=)
NM_001130144.3(LTBP3):c.3720C>T (p.Pro1240=)
NM_001130144.3(LTBP3):c.3735C>T (p.Leu1245=)
NM_001130144.3(LTBP3):c.3760+10G>A
NM_001130144.3(LTBP3):c.3760+14C>T
NM_001130144.3(LTBP3):c.3760+19G>A
NM_001130144.3(LTBP3):c.3760+8G>A
NM_001130144.3(LTBP3):c.3760+9G>C rs1855947962
NM_001130144.3(LTBP3):c.3761-12C>T
NM_001130144.3(LTBP3):c.3761-13C>T
NM_001130144.3(LTBP3):c.3761-15C>G rs376049741
NM_001130144.3(LTBP3):c.3761-8dup
NM_001130144.3(LTBP3):c.3761-9C>T
NM_001130144.3(LTBP3):c.376C>A (p.Arg126=)
NM_001130144.3(LTBP3):c.3796C>T (p.Leu1266=)
NM_001130144.3(LTBP3):c.3801G>C (p.Leu1267=)
NM_001130144.3(LTBP3):c.3810C>T (p.Ser1270=)
NM_001130144.3(LTBP3):c.3813G>A (p.Glu1271=)
NM_001130144.3(LTBP3):c.3816C>T (p.Arg1272=) rs377032217
NM_001130144.3(LTBP3):c.3861C>T (p.Gly1287=)
NM_001130144.3(LTBP3):c.3870C>T (p.Arg1290=)
NM_001130144.3(LTBP3):c.3903C>G (p.Arg1301=)
NM_001130144.3(LTBP3):c.3906C>T (p.Arg1302=)
NM_001130144.3(LTBP3):c.39T>G (p.Pro13=) rs1590792358
NM_001130144.3(LTBP3):c.441C>T (p.Ala147=)
NM_001130144.3(LTBP3):c.453C>T (p.Thr151=)
NM_001130144.3(LTBP3):c.468C>T (p.Pro156=)
NM_001130144.3(LTBP3):c.477C>T (p.Ser159=)
NM_001130144.3(LTBP3):c.478A>C (p.Arg160=)
NM_001130144.3(LTBP3):c.483A>G (p.Thr161=)
NM_001130144.3(LTBP3):c.486G>A (p.Gly162=)
NM_001130144.3(LTBP3):c.510G>A (p.Pro170=) rs1229558573
NM_001130144.3(LTBP3):c.540C>A (p.Ala180=)
NM_001130144.3(LTBP3):c.573C>T (p.Ile191=)
NM_001130144.3(LTBP3):c.57G>A (p.Gly19=)
NM_001130144.3(LTBP3):c.615C>T (p.His205=)
NM_001130144.3(LTBP3):c.625C>T (p.Leu209=)
NM_001130144.3(LTBP3):c.63G>A (p.Ala21=)
NM_001130144.3(LTBP3):c.661+15G>A
NM_001130144.3(LTBP3):c.661+20C>T
NM_001130144.3(LTBP3):c.662-15C>G
NM_001130144.3(LTBP3):c.662-17A>C
NM_001130144.3(LTBP3):c.662-8G>A
NM_001130144.3(LTBP3):c.662-9C>G
NM_001130144.3(LTBP3):c.6C>A (p.Pro2=)
NM_001130144.3(LTBP3):c.708C>G (p.Pro236=) rs373043487
NM_001130144.3(LTBP3):c.744G>A (p.Ser248=)
NM_001130144.3(LTBP3):c.747C>T (p.Asn249=)
NM_001130144.3(LTBP3):c.750C>G (p.Ala250=)
NM_001130144.3(LTBP3):c.76CTG[7] (p.Leu33_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130144.3(LTBP3):c.825C>T (p.Pro275=)
NM_001130144.3(LTBP3):c.846C>T (p.Asp282=)
NM_001130144.3(LTBP3):c.852G>C (p.Leu284=)
NM_001130144.3(LTBP3):c.864+13A>G rs2135157955
NM_001130144.3(LTBP3):c.865-13C>A
NM_001130144.3(LTBP3):c.865-14C>G
NM_001130144.3(LTBP3):c.865-15C>T
NM_001130144.3(LTBP3):c.865-16C>G
NM_001130144.3(LTBP3):c.865-17C>T
NM_001130144.3(LTBP3):c.927T>C (p.Thr309=)
NM_001130144.3(LTBP3):c.936C>T (p.Gly312=)
NM_001130144.3(LTBP3):c.971-10C>T
NM_001130144.3(LTBP3):c.971-12C>T rs1565100382
NM_001130144.3(LTBP3):c.971-13C>G
NM_001130144.3(LTBP3):c.971-15A>G
NM_001130144.3(LTBP3):c.971-8C>G

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